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Targeted Sequencing of HEXA Gene Shows Missense Substitution (p.Arg499His) in a Large Pakistani Family with Tay-Sachs Disease

Cytology and genetics, 2024-10, Vol.58 (5), p.486-492

2024

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Microbial pollution in inland recreational freshwaters of Quetta, Pakistan: an initial report

Journal of water and health, 2022-03, Vol.20 (3), p.575-588

2022

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Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family

Medicina (Kaunas, Lithuania), 2023-01, Vol.59 (1), p.103

2023

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Risk factors for lung cancer in the Pakistani population

Asian Pacific journal of cancer prevention : APJCP, 2014-01, Vol.15 (7), p.3035-3039

2014

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Genetic data of 22 autosomal STR loci in Khyber-Pakhtunkhwa, Balochistan and Gilgit Baltistan population of Pakistan using PowerPlex® fusion system

Legal medicine (Tokyo, Japan), 2022-11, Vol.59, p.102129-102129, Article 102129

2022

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A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family

Molecular syndromology, 2023-08, Vol.14 (4), p.293-302

2023

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Detection of Two Missense Substitutions in Gene EPM2B in Patients of Myoclonic Epilepsy from Balochistan

Pakistan journal of zoology, 2023-12, Vol.55 (6), p.2683

2023

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A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

European journal of medical genetics, 2012-12, Vol.55 (12), p.727-731

2012

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A Study on the Laying Performance of Cross (FAY x RIR) Chicken under Different Plans of Feeding

International journal of poultry science, 2002-10, Vol.1 (6), p.188-192

2002

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In-Silico Analysis of Gene ALS2 Genetic Variants Identified in the Affected Horses and Humans With Motor Neuron Disease

Journal of equine veterinary science, 2018-03, Vol.62, p.60-65

2018

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Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2016-05, Vol.17 (3-4), p.260-265

2016

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Identification of Mutations in Gene BRCA1/2 in Breast Cancer Cases from Balochistan, Pakistan

Pakistan journal of zoology, 2019-08, Vol.51 (4)

2019

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Short Communication - Identification of Mutations in Gene BRCA1/2 in Breast Cancer Cases from Balochistan, Pakistan

Pakistan journal of zoology, 2019-08, Vol.51 (4), p.1579

2019

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Risk Factors for Lung Cancer in the Pakistani Population

Asian Pacific journal of cancer prevention : APJCP, 2014, Vol.15 (7), p.3035-3039

2014

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Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin

Molecular biology reports, 2014-02, Vol.41 (2), p.1103-1107

2014

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An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group

Human genetics, 2012-02, Vol.131 (2), p.209-216

2012

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Various aspects, patterns and risk factors in breast cancer patients of Balochistan

Asian Pacific journal of cancer prevention : APJCP, 2012-01, Vol.13 (8), p.4013-4016

2012

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A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family

Molecular biology reports, 2012-05, Vol.39 (5), p.6197-6201

2012

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PCR-based Detection and Prevalence of Theileria Species in Sheep from Quetta District, Balochistan

Proceedings of the Pakistan Academy of Sciences: B. Life and Environmental Sciences, 2024-03, Vol.61 (1)

2024

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Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

Molecular vision, 2011, Vol.17, p.1940-1945

2011

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Various Aspects, Patterns and Risk Factors in Breast Cancer Patients of Balochistan

Asian Pacific journal of cancer prevention : APJCP, 2012, Vol.13 (8), p.4013-4016

2012

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Identification of MC4R and VCP Genetic Variants in Two Pakistani Families Showing Symptoms of Diabetes, Hyperphagia, Seizures, and Obesity

Molecular Medicine Communications, 2023-12, Vol.3 (2), p.149-158

2023

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Nested-PCR based Detection of Hepatitis C Virus: Low-cost Strategy in Pakistan: Nested-PCR based detection of Hepatitis C virus

Proceedings of the Pakistan Academy of Sciences: B. Life and Environmental Sciences, 2022-09, Vol.59 (3), p.81-87

2022

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Metaplastic Carcinoma of the Breast: A Clinical Study of 7 Cases from Balochistan

Advances in breast cancer research, 2014, Vol.3 (3), p.106-110

2014

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Mutational Studies of Gene HBB in β-Thalassemia Patients from Balochistan, Pakistan

Current Trends in OMICS, 2021-12, Vol.1 (2), p.80-94

2021

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Targeted Sequencing of HEXA Gene Shows Missense Substitution (p.Arg499His) in a Large Pakistani Family with Tay-Sachs Disease

Microbial pollution in inland recreational freshwaters of Quetta, Pakistan: an initial report

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family

Risk factors for lung cancer in the Pakistani population

Genetic data of 22 autosomal STR loci in Khyber-Pakhtunkhwa, Balochistan and Gilgit Baltistan population of Pakistan using PowerPlex® fusion system

A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family

Detection of Two Missense Substitutions in Gene EPM2B in Patients of Myoclonic Epilepsy from Balochistan

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

A Study on the Laying Performance of Cross (FAY x RIR) Chicken under Different Plans of Feeding

In-Silico Analysis of Gene ALS2 Genetic Variants Identified in the Affected Horses and Humans With Motor Neuron Disease

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

Identification of Mutations in Gene BRCA1/2 in Breast Cancer Cases from Balochistan, Pakistan

Short Communication - Identification of Mutations in Gene BRCA1/2 in Breast Cancer Cases from Balochistan, Pakistan

Risk Factors for Lung Cancer in the Pakistani Population

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group

Various aspects, patterns and risk factors in breast cancer patients of Balochistan

A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family

PCR-based Detection and Prevalence of Theileria Species in Sheep from Quetta District, Balochistan

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

Various Aspects, Patterns and Risk Factors in Breast Cancer Patients of Balochistan

Identification of MC4R and VCP Genetic Variants in Two Pakistani Families Showing Symptoms of Diabetes, Hyperphagia, Seizures, and Obesity

Nested-PCR based Detection of Hepatitis C Virus: Low-cost Strategy in Pakistan: Nested-PCR based detection of Hepatitis C virus

Metaplastic Carcinoma of the Breast: A Clinical Study of 7 Cases from Balochistan

Mutational Studies of Gene HBB in β-Thalassemia Patients from Balochistan, Pakistan

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